{"Name":"Maternal uniparental disomy of chromosome 16","DiseaseID__c":"GARD:0019336","id":19336,"encodedName":"maternal-uniparental-disomy-of-chromosome-16","IsDeleted":false,"Disease_Name_Full__c":"Maternal uniparental disomy of chromosome 16","Xref_IDs__c":"773299000; C4750769; MEDGEN:1650997; MONDO:0019916; ORPHA:96185","USA_Estimate__c":null,"No_of_Specialist_Tagsa__c":3,"No_of_ClinGen_records__c":0,"No_of_GeneReviews__c":0,"No_of_HHS_records__c":0,"World_Estimate__c":null,"No_of_HRSA_records__c":0,"Evidence_Based_Score__c":0,"No_of_Disease_Descriptions__c":1,"Disease_Characteristics_Score__c":6,"No_of_Age_at_Onset__c":2,"Description_Source__c":"ORPHA:96185","Disease_Description__c":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.","GARD_Name__c":"Maternal uniparental disomy of chromosome 16","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 16; upd(16)mat","Curated_Disease_Description_Source__c":"ORPHA:96185","Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.","Curated_USA_Estimate_Source__c":null,"Curated_USA_Estimate__c":null,"Age_at_Onset_Snippet_Text__c":"during Pregnancy and as a Newborn","SourceID__c":"ORPHA:96185","Deprecated__c":"No","Disease_Concept_Type__c":"Rare Disease Entity","MONDO_ID__c":"MONDO:0019916","ORPHANET_ID__c":"ORPHA:96185","Replaced_By_ID__c":null,"Display_Spanish_Disease_Name__c":"Síndrome de disomía uniparental materna del cromosoma 16","Spanish_Description_Source__c":null,"Spanish_Description__c":null,"Spanish_Disease_Name__c":"síndrome de disomía uniparental materna del cromosoma 16","Spanish_GARD_Synonym__c":"upd(16)mat","Category_Linearization__c":"ORPHA:93890","icd10_id__c":null,"mesh_id__c":null,"omim_id__c":null,"snomed_id__c":null,"umls_id__c":null,"GARD_Disease__c":[{"Curated_Disease_Description__c":"Maternal uniparental disomy of chromosome 16 is a uniparental disomy of maternal origin which might be associated with intrauterine growth retardation and an elevated risk of congenital malformations. Healthy carriers have also been reported. In addition, cases of homozygosity for a recessive disease mutation for which the mother was a carrier have been described, and specific phenotype depends on the inherited disorder.","Curated_Disease_Description_Source__c":"ORPHA:96185","GARD_Synonym__c":"maternal uniparental disomy of chromosome type 16; upd(16)mat","Name":"Maternal uniparental disomy of chromosome 16","estimateUsa":""}],"Organization_Supported_Diseases__c":[{"Account_Name__c":"Chromosome Disorder Outreach","Website__c":"https://chromodisorder.org/"},{"Account_Name__c":"Unique","Website__c":"https://rarechromo.org/"}],"GARD_Disease_Tag__c":[{"Tag_Name__c":"Chromosomal Anomaly","Tag_Category__c":"Account;Cause","curated_tag_name":"Chromosome disorders"},{"Tag_Name__c":"Genetics","Tag_Category__c":"Cause;Disease Category;Specialist","category_description":"Genetic diseases affect the DNA, or genetic instructions, which directs how tissues, organs, and body systems function.","curated_tag_name":"Genetic diseases"},{"Tag_Name__c":"Gastroenterology","Tag_Category__c":"Disease Category;Specialist","category_description":"Gastrointestinal diseases, or digestive diseases, affect the esophagus, stomach, small intestine, large intestine, liver, gallbladder, or pancreas.","curated_tag_name":"Gastrointestinal diseases"},{"Tag_Name__c":"Congenital Abnormality","Tag_Category__c":"Disease Category","category_description":"Birth defects are structural changes present at birth that can affect almost any part of the body, including how the body looks, works, or both.","curated_tag_name":"Birth defects"},{"Tag_Name__c":"Pediatrics","Tag_Category__c":"Specialist"}],"Age_At_Onset__c":[{"Age_At_Onset__c":"Antenatal","Provided_By__c":"ORPHA:96185"},{"Age_At_Onset__c":"Neonatal","Provided_By__c":"ORPHA:96185"}],"External_Identifier_Disease__c":[{"URL__c":"https://www.orpha.net/en/disease/detail/96185","Source__c":"C4750769; MONDO:0019916; ORPHA:96185","Xref__c":"ORPHA:96185"},{"URL__c":"https://uts.nlm.nih.gov/uts/umls/concept/C4750769","Source__c":"C4750769","Xref__c":"C4750769"},{"URL__c":"https://www.ncbi.nlm.nih.gov/medgen/?term=1650997","Source__c":"C4750769","Xref__c":"MEDGEN:1650997"},{"URL__c":"https://browser.ihtsdotools.org/?perspective=full&conceptId1=773299000","Source__c":"C4750769","Xref__c":"773299000"},{"URL__c":"http://purl.obolibrary.org/obo/MONDO_0019916","Source__c":"GARD:0019336","Xref__c":"MONDO:0019916"}],"tags":{"Account":["Chromosomal Anomaly"],"Cause":["Chromosomal Anomaly","Genetics"],"Disease Category":["Genetics","Gastroenterology","Congenital Abnormality"],"Specialist":["Genetics","Gastroenterology","Pediatrics"]},"synonyms":["maternal uniparental disomy of chromosome type 16"," upd(16)mat"]}